ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) (rs756310864)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689608 SCV000817266 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 541 of the HGSNAT protein (p.Ser541Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs756310864, ExAC 0.04%). This variant has been reported to be homozygous or compound heterozygous in multiple individuals with mucopolysaccharidosis type IIIC (PMID: 17033958, 19823584, 19479962). Experimental studies have shown that this missense change results in reduced HGSNAT enzyme activity in cell culture (PMID: 19823584, 20583299). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074231 SCV001239804 likely pathogenic Retinal dystrophy 2019-04-10 criteria provided, single submitter clinical testing
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV001358677 SCV001554475 pathogenic Mucopolysaccharidosis, MPS-III-C 2021-04-07 criteria provided, single submitter clinical testing

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